Mutagenetix > Incidental Mutation

Incidental Mutation 'R3683:Acat1'

269433

Institutional Source

Beutler Lab

Gene Symbol

Acat1

Ensembl Gene

ENSMUSG00000032047

Gene Name

acetyl-Coenzyme A acetyltransferase 1

Synonyms

Acat, 6330585C21Rik

MMRRC Submission

040681-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.250) question?

Stock #

R3683 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

53491822-53521650 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53498765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 307 (A307T)

Ref Sequence

ENSEMBL: ENSMUSP00000034547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034547]

AlphaFold

Q8QZT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000034547
AA Change: A307T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034547
Gene: ENSMUSG00000032047
AA Change: A307T

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
Pfam:Thiolase_N	39	296	3.7e-98	PFAM
Pfam:ketoacyl-synt	104	166	1.1e-8	PFAM
Pfam:Thiolase_C	303	423	1.5e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169317

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	T	C	X: 80,463,841 (GRCm39)	D622G	possibly damaging	Het
Acad11	T	C	9: 103,992,543 (GRCm39)	I495T	probably damaging	Het
Ahdc1	T	C	4: 132,793,013 (GRCm39)	L1418P	possibly damaging	Het
Bmp2	T	A	2: 133,396,392 (GRCm39)	V16D	probably benign	Het
Cables2	G	A	2: 179,906,263 (GRCm39)	R121*	probably null	Het
Calb2	A	G	8: 110,883,620 (GRCm39)	Y35H	probably benign	Het
Cdon	A	G	9: 35,400,328 (GRCm39)	E1014G	possibly damaging	Het
Clcn7	T	C	17: 25,369,567 (GRCm39)	L301P	possibly damaging	Het
Corin	T	C	5: 72,488,198 (GRCm39)	D610G	probably damaging	Het
Csrnp2	A	T	15: 100,379,879 (GRCm39)	S471T	probably benign	Het
Dnah7a	C	A	1: 53,483,675 (GRCm39)	M3367I	probably benign	Het
Elp4	A	T	2: 105,533,106 (GRCm39)	M413K	possibly damaging	Het
Fat1	A	G	8: 45,470,975 (GRCm39)	D1593G	probably benign	Het
Fbxw24	G	A	9: 109,437,110 (GRCm39)	P259L	possibly damaging	Het
Ggta1	T	A	2: 35,298,000 (GRCm39)	T162S	probably benign	Het
Gldn	G	A	9: 54,245,624 (GRCm39)	E392K	possibly damaging	Het
Klra9	T	C	6: 130,168,260 (GRCm39)	N2S	probably benign	Het
Lama1	A	G	17: 68,075,328 (GRCm39)	D1015G	probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Nrxn1	T	C	17: 90,930,880 (GRCm39)	D779G	probably damaging	Het
Or2d3c	G	A	7: 106,526,301 (GRCm39)	R122*	probably null	Het
Or4a73	C	A	2: 89,421,099 (GRCm39)	R120L	probably damaging	Het
Or4c118	A	T	2: 88,975,364 (GRCm39)	M1K	probably null	Het
Or5d37	T	A	2: 87,923,603 (GRCm39)	I226F	probably damaging	Het
Osmr	A	C	15: 6,866,534 (GRCm39)	V380G	possibly damaging	Het
Phf21b	A	G	15: 84,682,891 (GRCm39)	I222T	probably damaging	Het
Ptprq	G	T	10: 107,544,489 (GRCm39)	T347K	probably benign	Het
Sema6d	G	T	2: 124,496,146 (GRCm39)	L63F	possibly damaging	Het
Serpinb9b	C	T	13: 33,213,581 (GRCm39)	A46V	probably damaging	Het
Sf3b3	A	G	8: 111,540,253 (GRCm39)		probably null	Het
Smpd1	T	A	7: 105,204,609 (GRCm39)	C163S	probably damaging	Het
Stat4	C	T	1: 52,052,981 (GRCm39)	T54I	possibly damaging	Het
Tacc2	A	G	7: 130,226,800 (GRCm39)	S1162G	probably benign	Het
Tbc1d20	C	T	2: 152,153,737 (GRCm39)	T354I	probably benign	Het
Tbc1d31	T	C	15: 57,815,210 (GRCm39)		probably null	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Unc79	T	A	12: 103,041,062 (GRCm39)	N698K	probably benign	Het
Utrn	A	G	10: 12,542,579 (GRCm39)	M1802T	probably benign	Het
Vmn1r8	A	C	6: 57,013,260 (GRCm39)	T104P	probably damaging	Het
Vmn2r13	C	A	5: 109,304,721 (GRCm39)	R570I	probably damaging	Het
Zfand6	G	A	7: 84,283,570 (GRCm39)	P11S	probably damaging	Het
Zfp1005	A	G	2: 150,109,976 (GRCm39)	K222R	probably benign	Het
Zmpste24	A	G	4: 120,918,288 (GRCm39)	F445L	probably damaging	Het

Other mutations in Acat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Acat1	APN	9	53,493,895 (GRCm39)	missense	probably damaging	0.98
IGL02160:Acat1	APN	9	53,503,287 (GRCm39)	missense	probably benign	0.00
IGL02246:Acat1	APN	9	53,496,166 (GRCm39)	missense	probably benign	0.06
IGL02582:Acat1	APN	9	53,506,045 (GRCm39)	missense	probably benign	0.37
IGL03028:Acat1	APN	9	53,506,062 (GRCm39)	missense	probably benign	0.14
R0637:Acat1	UTSW	9	53,498,831 (GRCm39)	missense	probably damaging	1.00
R1200:Acat1	UTSW	9	53,494,810 (GRCm39)	missense	possibly damaging	0.90
R1302:Acat1	UTSW	9	53,500,525 (GRCm39)	missense	possibly damaging	0.70
R1331:Acat1	UTSW	9	53,496,183 (GRCm39)	missense	probably benign	0.10
R4829:Acat1	UTSW	9	53,502,756 (GRCm39)	missense	probably damaging	1.00
R5035:Acat1	UTSW	9	53,494,810 (GRCm39)	missense	probably benign	0.00
R5354:Acat1	UTSW	9	53,500,483 (GRCm39)	missense	possibly damaging	0.91
R5411:Acat1	UTSW	9	53,493,946 (GRCm39)	missense	probably damaging	1.00
R5521:Acat1	UTSW	9	53,494,807 (GRCm39)	nonsense	probably null
R5634:Acat1	UTSW	9	53,494,921 (GRCm39)	intron	probably benign
R5905:Acat1	UTSW	9	53,503,366 (GRCm39)	missense	probably damaging	1.00
R6028:Acat1	UTSW	9	53,503,366 (GRCm39)	missense	probably damaging	1.00
R6925:Acat1	UTSW	9	53,503,329 (GRCm39)	missense	probably benign	0.12
R8298:Acat1	UTSW	9	53,505,724 (GRCm39)	missense	probably damaging	1.00
R9057:Acat1	UTSW	9	53,503,300 (GRCm39)	missense	probably damaging	1.00
R9237:Acat1	UTSW	9	53,494,816 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGATTCCTGCCCCATTTGAG -3'
(R):5'- CCTTAATAACCCAGATAGTGCTCTG -3'

Sequencing Primer
(F):5'- GAGTTCCTATCCTGACATCTCTTG -3'
(R):5'- ACCCAGATAGTGCTCTGTGAGTATTG -3'

Posted On

2015-02-19